Varaico: Literature-Extracted Genetic Variants

LIG3

221 papers

RefSeq Summary

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein en...

Pfam Domains

zf-PARPaa 96–181UCSCPoly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region

DNA_ligase_A_Naa 262–434UCSCDNA ligase N terminus

DNA_ligase_A_Maa 483–677UCSCATP dependent DNA ligase domain

DNA_ligase_A_Caa 704–814UCSCATP dependent DNA ligase C terminal region

LIG3_BRCTaa 933–1003UCSCDNA ligase 3 BRCT domain

Gene Aliases

HGNC Name

DNA ligase 3

HGNC Previous Symbol

LIG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013975.4

p.I412I

c.1236C>T

Surrounding Variants

2 papers

NM_013975.4

p.N407S

c.1220A>G

1 paper

NM_013975.4

p.R403Splc

c.1209-2A>G

1 paper

NM_013975.4

p.H428fs

c.1282_1283fs

1 paper

NM_013975.4

p.A401D

c.1202C>A

1 paper

NM_013975.4

p.L381R

c.1142T>G

1 paper

NM_013975.4

p.E379K

c.1135G>A

1 paper

NM_013975.4

p.A367delFs

c.1100delC

1 paper

NM_013975.4

p.D349G

c.1046A>G

1 paper

NM_013975.4

p.V429Splc

c.1287-115C>G

1 paper

NM_013975.4

p.A432T

c.1294G>A

1 paper

NM_013975.4

p.A440V

c.1319C>T

1 paper

NM_013975.4

p.E464K

c.1390G>A